Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Y933*
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IQSEC2

NM_001111125.3:p.Y933*

Associated Papers

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.

Accogli A et al.

Journal of Genetics, 2020

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.

Jackson MR et al.

Life Science Alliance, 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."